Variant (rsID / SNP)

rs189442618

rs189442618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESPN. Location: chromosome 1, position 6,501,070. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ESPNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:6501070
Cytoband: 1p36.31
HGVS: NM_031475.3(ESPN):c.935C>T (p.Ser312Leu)
Allele change: Missense_S312L

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 36

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.